Director of the Genetics Research Center and of Cardiovascular Genetics
Name: Gualberto Ruaño
Position: Founder, President, and CEO of Genomas, 2003 the present
Director of the Genetics Research Center and of Cardiovascular Genetics at Hartford Hospital
Background: Founder and CEO, Genaissance Pharmaceuticals, 1997 2002
CSO, Genaissance Pharmaceuticals, 2002 2003
Education: PhD in Genetics, Yale University, 1992
MD, Yale University, 1997
As the founder of Genaissance and as a speaker on personalized medicine issues, Gualberto Ruaño is highly visible in the field of pharmacogenomics. More than a year has passed since Pharmacogenomics Reporter last interviewed him in this format, so we called him up to hear about the evolution of his newest project, molecular diagnostics company Genomas.
In general, drug-metabolizing enzyme diagnostics are not expected to create a great deal of demand. Genomas has a kit intended for that purpose what do you think is the key to raising demand in this area?
We have a trademarked kit called HiloMet that we wanted to differentiate from other products, such as individual genotyping [tests].
Our strategy on this is to maximize the clinical value of these tests. The actual DNA result is being incorporated into support systems for clinical management and drug dosing and drug selection. In other words, to facilitate the use of this in the clinical world, you have to enable doctors and other clinicians to use the information for clinical management. And that is what I believe will drive the use of this testing the clinical management protocols.
The reason we're very excited about this is because we now have two drug labels that are very explicit in their statement about the need for pharmacogenetic testing. One is Strattera that's used for hyper-reactivity disorders, where the label clearly says that individuals who are poor metabolizers have a higher risk of adverse reactions, and the second is Coumadin, which is [metabolized by CYP 2C9] so I think that kind of information in labels will drive the use of this as long as it is supported with clinical management tools.
For tools like Roche's AmpliChip CYP450 test, will they be stuck with a low demand?
I think the differentiation will come not just from the test we tend to think of it in the laboratory profession in the context of how many tests you have. From a clinical perspective, the question is the impact of those test of clinical management, and that's where we're going with Genomas and HiloMet to impact the clinical management and have the test as basically the background-DNA information, and translate that into clinical management tools.
What is in Genomas' pipeline currently?
From a business perspective, [the upcoming launch of the company's statin PhysioType test] represents our second product launch in the area of drug safety. It's in the pipeline for launching in the spring to summer of next year.
The first one was the HiloMet, which is a generalized system for drug metabolism, and this one is the first that is drug specific there will be another one after [the statin PhysioType test], which is an antipsychotic drug test.
The other one that we have under development is the prevention line for metabolic syndrome, and that relates to exercise, and we expect to have some interesting news on that early in the year, and that system is advancing into beta testing. It's the same concept, utilizing an ensemble of SNPs linked together into a system with a proprietary algorithm, an array, to make predictions on [drug] responses.
What's down the road further?
The two next items on that are the work we're doing on personalized diet not just how you lose weight, which is what most people think of, but use diet to reduce risk factors for different diseases. Diseases ranging from obesity to breast cancer. We know that obesity is implied in many disorders diabetes, breast cancer, risk of sleep apnea. The list is very long, but if you look at the metabolic consequences of different kinds of interventions, you will see that you can begin to treat the underlying mechanism of these other disease, and that's where we're moving with the diet. The diet product will probably be similar to the exercise product.
The other product that is under development this one we have been fortunate to have substantial rewards for, through [the US National Institutes of Health] [through Small Business Innovation Research] grants, we have now $500,000. This relates to psychiatry, and some of the metabolic effects of psychiatric treatment, specifically diabetes. Similar to the statins, this is another drug-safety product trying to predict the risk of individuals developing diabetic consequences. That is certainly something you don't want in the treatment of mental health patients. It will say, 'Given your genetic markers, these are the risk marker, this is the risk probability that you will develop diabetic conditions in response to psychiatric medications.
What technology have you chosen to look for SNPs?
Right now, we have two systems, two technologies in place at the company. We're working with Illumina on the discovery we're using the BeadStation. And then we also have the Luminex X-Map.
The strategy was to begin with a generalized system for drug safety, which covers several drugs looking at drug levels and metabolism and then pursue that very closely next with class-specific medication systems for safety, and the statins are the first, [followed by] the antipsychotics and diabetes.
What sort of business model are you following with the commercialization of these diagnostics?
Right now, the business model is a reference-lab model. So, we're doing this DNA testing inside the company under our registration with [the Clinical Laboratories Improvement Act] and our license with the Department of Health in Connecticut. From there we will then pursue other means of distribution or regulatory processes downstream as we pursue them into stand-alone, proprietary, self-contained kits for drug safety.
Have you made up your mind about whether to pursue US Food and Drug Administration clearance for these diagnostics?
No. Well, right now we're very much pursuing the reference-lab model, and that's where we are. But you know, moving into the regulatory pathway is something that we will take to market for our next financing.
But that definitely will be the goal to move these systems into the regulatory compliance process.
I was a participant in [the FDA's Clinical Pharmacology Subcommittee of the Advisory Committee on Pharmaceutical Science] I think that's really the wave of the future. I think the statins will be next in this retrofitting concept, as we build more studies and more applicability for the test.
Have you thought about what sorts of platforms are going to be necessary to bring these kinds of tests into the clinic?
Oh, absolutely. I think from an engineering perspective, the big field to follow, and we're very involved in this, is nanotechnology and miniaturization of these assays. We have a partnership with Illumina, so we keep working on novel kinds of technologies for different kinds of DNA typing, from a genome-wide perspective to a clinical perspective.
So, I think the miniaturization of the analytes is the wave of the future, and the coupling of those to software devices that can be updates has the rules for the sample interpretation involved. That's where we are right now with our physiogenomics technology, which is the informatics platform behind all of these devices.